NCBI and Uniprot Product Information
NCBI Description
This gene is a member of the endothelin family whose members encode proteins that act on G protein-coupled receptors. Endothelins are produced as large prepropolypeptide precursors that undergo a first cleavage by a subtilisin serine protease to form an inactive intermediate, which in turn is cleaved again by endothelin-converting enzyme 1 (ECE-1) to yield the active 21 amino acid peptide. This gene encodes a protein which is expressed in neural crest cells (NCC), binds to endothelin receptor b (Ednrb) and plays an essential role in the development of NCC-derived cell lineages including melanocytes and enteric neurons. Mutations in this gene are associated with terminal aganglionosis and white spotted coat in mice and Hirschsprung's disease and Waardenburg syndrome in humans. [provided by RefSeq, Apr 2013]
Uniprot Description
EDN3: Endothelins are endothelium-derived vasoconstrictor peptides. Defects in EDN3 are the cause of Hirschsprung disease type 4 (HSCR4); also known as aganglionic megacolon (MGC). A genetic disorder of neural crest development characterized by the absence of intramural ganglion cells in the hindgut; often resulting in intestinal obstruction. Defects in EDN3 are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Defects in EDN3 are a cause of Waardenburg syndrome type 4 (WS4B); also known as Waardenburg-Shah syndrome. WS4B is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Belongs to the endothelin/sarafotoxin family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted
Cellular Component: cell; extracellular region; extracellular space; intracellular
Molecular Function: endothelin B receptor binding; hormone activity
Biological Process: cell surface receptor linked signal transduction; cellular calcium ion homeostasis; inositol phosphate-mediated signaling; melanocyte differentiation; negative regulation of hormone secretion; neural crest cell migration; neuron differentiation; neutrophil chemotaxis; peptide hormone secretion; positive regulation of cell differentiation; positive regulation of cell proliferation; positive regulation of heart rate; positive regulation of hormone secretion; positive regulation of leukocyte chemotaxis; positive regulation of MAP kinase activity; positive regulation of mitosis; regulation of blood vessel size; regulation of cell migration; regulation of gene expression; regulation of neurotransmitter secretion; regulation of pigmentation during development; regulation of systemic arterial blood pressure by endothelin; regulation of vasoconstriction; vasoconstriction; vein smooth muscle contraction
Research Articles on Edn3
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Product Notes
The Mouse Edn3 edn3 (Catalog #AAA2884146) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA2884146 ELISA Kit recognizes Mouse Edn3. It is sometimes possible for the material contained within the vial of "Endothelin-3, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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